I27T (p.Ile27Thr) variant of GABRG2 (P18507)
I27T (p.Ile27Thr) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
I27T (p.Ile27Thr) variant details
- p.Ile27Thr
- gnomAD 5-162036927-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 6.73
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available